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Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further evidence of a hyperactive α‐ N ‐acetylglucosaminidase‐producing allele
Author(s) -
Pande Helens,
Chester Alan,
Lia Halldis,
Tharsby Erik,
Stormorken Helge
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03674.x
Subject(s) - proband , allele , thrombasthenia , mucopolysaccharidosis , glanzmann's thrombasthenia , heterozygote advantage , endocrinology , medicine , genetics , biology , platelet , mutation , platelet aggregation , gene
A daughter of first cousins had two extremely rare, recessive disorders: thrombasthenia (Glanzmann's disease, glycoprotein IIb/IIIa deficiency) and mucopolysaccharidosis IIIB, (Sanfilippo B syndrome, α‐ N ‐acetylglu‐cosaminidase (NAG) deficiency). Normal α‐ N ‐acetylglucosaminidase activity was observed in two obligate heterozygotes (the proband's father and her maternal grandmother), suggesting that in addition to the normal and defective alleles, a third, hyperactive allele is also present in this family. Such a hyperactive allele seems to be quite prevalent in our area, and makes the biochemical identification of heterozygotes impossible if no extensive family surveys provide additional clues. There was no linkage between the two diseases, nor between any of them and several blood‐groups and HLA‐antigens tested for.